Von hippel-lindau syndrome

Symptoms

What are the main symptoms of Von Hippel-Lindau disease?

Von Hippel-Lindau (VHL) syndrome a rare disorder in which both cancerous and non-cancerous (benign) tumors and cysts develop in different parts of the body. These may include:

  • Hemangioblastomas: tumors are made up of newly-formed blood vessels. The tumors are non-cancerous, but can cause serious problems depending on where in the body they are located, which often includes the brain, spinal cord or eyes.
  • Renal (kidney) cysts: sacs of fluid that form in the kidneys
  • Clear Cell Renal cell carcinomas: a type of kidney cancer
  • Pheochromocytomas: a tumor of the adrenal gland that often causes high blood pressure.
  • Pancreatic cysts: sacs of fluid that form in the pancreas
  • Neuroendocrine tumors: cancer of the neuroendocrine cells
  • Endolymphatic sac tumors: rare tumors of the petrous temporal bone found at the base of the skull
  • Epididymal cysts: sacs of fluid that form in the epididymis (tightly coiled tube in men where the sperm matures).
  • Broad ligament cysts: sacs of fluid that form in the female pelvis

The symptoms of VHL usually become apparent during young adulthood. VHL can be very different in one person when compared to another, even among members of the same family.

References
  • Von Hippel-Lindau syndrome. Genetics Home Reference website. Accessed September 8, 2016. https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
  • Von Hippel-Lindau Syndrome. The National Organization for Rare Disorders website. Accessed September 10, 2016. http://rarediseases.org/rare-diseases/von-hippel-lindau-disease/
  • Bardawil T, Chelmow D. Broad Ligament Disorders. Emedicine website. http://emedicine.medscape.com/article/275773-overview
  • Atkins MB, Richie JP. Renal Cell Carcinoma. UpToDate, Inc. website. http://www.uptodate.com/contents/renal-cell-carcinoma-kidney-cancer-beyond-the-basics
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
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More Symptoms Content

In Von Hippel-Lindau syndrome, what symptoms are associated with hemangioblastomas?

Any other diseases that look a lot like Von Hippel-Lindau disease?

In Von Hippel-Lindau syndrome, what symptoms are associated with pheochromocytomas?

Is the pancreas affected in von Hippel-Lindau syndrome?

If I have Von Hippel Lindau, will I always shave symptoms?

In Von Hippel-Lindau syndrome, what symptoms are associated with hemangioblastomas?

One of the most common symptoms of Von Hippel-Lindau syndrome are hemangioblastomas. These tumors are made up of blood vessels. They often develop in the eyes, brain and spinal cord. The symptoms they cause will depend on exactly where they are located. In the eyes, they form on the retina, which is the layer of tissue in back of the eye which absorbs light and converts it into nerve signals which are then passed on to the brain. Hemangioblastomas that form on the retina can cause problems with vision or discharge to leak from the eyes. These tumors may also be called retinal angiomas. Hemangioblastomas of the brain and spinal cord can cause headaches, vomiting, loss of balance and coordination, and weakness.

References
  • Von Hippel-Lindau syndrome. Genetics Home Reference website. Accessed September 8, 2016. https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
Any other diseases that look a lot like Von Hippel-Lindau disease?

There are several disorders that may have signs and symptoms that are very similar to those seen in Von Hippel-Lindau syndrome in that . most are associated with the development of multiple types of tumors or cysts. These disorders include:

  • Tuberous sclerosis
  • Birt-Hogg-Dube syndrome
  • Polycystic kidney disease
  • Neurofibromatosis
  • Multiple endocrine neoplasia
  • Hereditary pheochromocytoma-paraganglioma syndrome.
  • Isolated hemangioblastoma, retinal angioma, or clear cell renal cell carcinoma
  • Pheochromocytoma related to other genetic mutations or isolated
References
  • Maher E. Von Hippel-Lindau syndrome. OrphaNet website. Accessed September 8, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
In Von Hippel-Lindau syndrome, what symptoms are associated with pheochromocytomas?

Some people with von Hippel-Lindau (VHL) syndrome will develop a pheochromocytoma. This is a tumor that usually forms in the adrenal glands (although they can be found in other areas of the body). A pheochromocytoma may not cause symptoms or it can cause high blood pressure, excessive sweating, mood changes, and heart palpitations or a rapid heartbeat.

References
  • Plon SE, Jonasch E. Clinical features, diagnosis, and management of von Hippel-Lindau disease. UpToDate, Inc website.
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
Is the pancreas affected in von Hippel-Lindau syndrome?

Some people with von Hippel-Lindau (VHL) syndrome will develop cysts or tumors of the pancreas. The pancreas is a gland that secretes enzymes. These enzymes have jobs including traveling to the intestines and helping with digestion. Many people will develop cysts on the pancreas, but usually these cysts do not cause any problems. Some people will develop neuroendocrine tumors of the pancreas. These tumors can become cancerous.

References
  • Plon SE, Jonasch E. Clinical features, diagnosis, and management of von Hippel-Lindau disease. UpToDate, Inc website.
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
If I have Von Hippel Lindau, will I always shave symptoms?

Von Hippel Lindau is highly "penetrant". Penetrance is a term that represents how likely it is for symptoms to show up in somebody. If a gene mutation is 100% penetrant, that means there is a 100% chance that the person will show symptoms. According to GeneReviews, almost all individuals who have a pathogenic variant in VHL are symptomatic by age 65 years.

References
  • Maher E. Von Hippel-Lindau syndrome. OrphaNet website. Accessed September 8, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892 Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
  • Maher E. Von Hippel-Lindau syndrome. OrphaNet website. Accessed September 8, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892

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